Varaico: Literature-Extracted Genetic Variants

ADGRE3

55 papers

RefSeq Summary

This gene encodes a member of the class B seven-span transmembrane (TM7) receptor family expressed predominantly by cells of the immune system. Family members are characterized by an extended extracel...

Pfam Domains

EGF_CAaa 67–117UCSCCalcium-binding EGF domain

GPSaa 302–344UCSCGPCR proteolysis site, GPS, motif

7tm_2aa 353–594UCSC7 transmembrane receptor (Secretin family)

Gene Aliases

HGNC Name

adhesion G protein-coupled receptor E3

HGNC Previous Symbol

EMR3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032571.5

p.F322F

c.966C>T

Surrounding Variants

1 paper

NM_032571.5

p.L323P

c.968T>C

1 paper

NM_032571.5

p.C333Y

c.998G>A

1 paper

NM_032571.5

p.C335Y

c.1004G>A

1 paper

NM_032571.5

p.C370F

c.1109G>T

1 paper

NM_032571.5

p.A374A

c.1122G>A

2 papers

NM_032571.5

p.L380M

c.1138C>A

1 paper

NM_032571.5

p.R385Q

c.1154G>A

1 paper

NM_032571.5

p.K294_M295Splc

c.882+1G>A

1 paper

NM_032571.5

p.T289T

c.867T>A

1 paper

NM_032571.5

p.F254delFs

c.762delA

1 paper

NM_032571.5

p.I249T

c.746T>C

1 paper

NM_032571.5

p.S243Y

c.728C>A